Canonical Allele Identifier: CA480073239
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069343A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675559A>T , CM000674.2:g.52675559A>T GRCh38
NC_000012.11:g.53069343A>T , CM000674.1:g.53069343A>T GRCh37
NC_000012.10:g.51355610A>T NCBI36
NG_008364.1:g.9849T>A
NG_008364.2:g.9849T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1569T>A MANE Select ENSP00000252244.3:p.Gly523=
NM_006121.3:c.1569T>A NP_006112.3:p.Gly523=
NM_006121.4:c.1569T>A MANE Select NP_006112.3:p.Gly523=